Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184162098..184163730-chr1:184168905..184171042,2	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10752934	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1078926	0.81[ASN][1000 genomes]
rs10911524	0.89[ASN][1000 genomes]
rs10911526	0.89[ASN][1000 genomes]
rs10911527	0.89[ASN][1000 genomes]
rs10911555	0.87[CHB][hapmap]
rs11582627	0.81[ASN][1000 genomes]
rs12033327	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12128572	0.89[ASN][1000 genomes]
rs12136030	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1327143	0.82[CHB][hapmap]
rs1359760	0.89[ASN][1000 genomes]
rs1863155	0.89[ASN][1000 genomes]
rs1863156	0.89[ASN][1000 genomes]
rs1863157	0.89[ASN][1000 genomes]
rs2019376	0.86[ASN][1000 genomes]
rs2042556	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2194698	0.89[ASN][1000 genomes]
rs2378819	0.81[ASN][1000 genomes]
rs3954285	0.89[ASN][1000 genomes]
rs4428848	0.87[CHB][hapmap]
rs4650656	0.81[ASN][1000 genomes]
rs4651182	0.89[ASN][1000 genomes]
rs4651200	0.87[CHB][hapmap]
rs60072887	0.81[ASN][1000 genomes]
rs6424931	0.81[ASN][1000 genomes]
rs6424933	0.80[ASN][1000 genomes]
rs7349135	0.81[ASN][1000 genomes]
rs7540770	0.82[CHB][hapmap]
rs929941	0.89[ASN][1000 genomes]
rs932993	0.82[CHB][hapmap]
rs963234	0.87[CHB][hapmap]
rs9787399	0.87[CHB][hapmap]
rs993065	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
2	chr1:184167200-184171600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:184167400-184172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:184169200-184187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:184169400-184170800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:184169400-184170800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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